NIPA2 (NIPA magnesium transporter 2)
|
Gene
Gene information from NCBI Gene database.
|
|
| Entrez ID | 81614 |
| Gene name | NIPA magnesium transporter 2 |
| Gene symbol | NIPA2 |
| Synonyms (NCBI Gene) |
SLC57A2
|
| Chromosome | 15 |
| Chromosome location | 15q11.2 |
| Summary | This gene encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene a |
|
SNPs
SNP information provided by dbSNP.
1
|
|||||||||
|
|||||||||
|
miRNA
miRNA information provided by mirtarbase database.
224
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||
|
Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
|
|||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||
|
Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
|
|||||||
|
|||||||
|
Protein
Protein information from UniProt database.
|
|||||||||||
|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
Q8N8Q9 | ||||||||||
| Protein name | Magnesium transporter NIPA2 (Non-imprinted in Prader-Willi/Angelman syndrome region protein 2) | ||||||||||
| Protein function | Acts as a selective Mg(2+) transporter. | ||||||||||
| Family and domains |
Pfam
|
||||||||||
| Tissue specificity | TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:14508708}. | ||||||||||
| Sequence | |||||||||||
| Sequence length | 360 | ||||||||||
| Interactions | View interactions | ||||||||||
|
Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
|
|||||||
|
|||||||
|
Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
|
|||||||||||||||||||||||||
|
Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||